Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Sptbn4qv-4J
Name:	spectrin beta, non-erythrocytic 4; quivering 4 Jackson
MGI ID:	MGI:2150646
Synonyms:	Spnb4qv-4J
Gene:	Sptbn4  Location: Chr7:27055808-27147111 bp, - strand  Genetic Position: Chr7, 15.88 cM, cytoband A3
Alliance:	Sptbn4qv-4J page

Strain of Origin:

C57BL/6ByJ x DBA/2J

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: The mutation is a C-to-T transition point mutation at coding nucleotide 4234 (transcript XM_006540436), which introduces a premature stop codon at a position corresponding to glutamine 1412 in the encoded protein (p.Q1412*). (J:71549) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Sptbn4 Mutation:	122 strains or lines available

Original:	J:71549 Parkinson NJ, et al., Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice. Nat Genet. 2001 Sep;29(1):61-5
All:	8 reference(s)